ClinVar Miner

List of variants in gene PRKDC reported as uncertain significance for not provided

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile) rs56080897 0.00070
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119 0.00059
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val) rs201214138 0.00057
NM_006904.7(PRKDC):c.2667G>C (p.Glu889Asp) rs200126714 0.00056
NM_006904.7(PRKDC):c.11029C>T (p.Pro3677Ser) rs55924155 0.00051
NM_006904.7(PRKDC):c.4375C>T (p.His1459Tyr) rs199524714 0.00045
NM_006904.7(PRKDC):c.5957G>A (p.Arg1986His) rs199898990 0.00016
NM_006904.7(PRKDC):c.2955G>C (p.Glu985Asp) rs202016860 0.00013
NM_006904.7(PRKDC):c.7833C>T (p.Ala2611=) rs375277772 0.00007
NM_006904.7(PRKDC):c.7954G>A (p.Gly2652Arg) rs746861565 0.00006
NM_006904.7(PRKDC):c.8857A>T (p.Thr2953Ser) rs369402631 0.00006
NM_006904.7(PRKDC):c.1054G>A (p.Val352Met) rs772734060 0.00005
NM_006904.7(PRKDC):c.1862C>T (p.Ser621Leu) rs759890511 0.00004
NM_006904.7(PRKDC):c.3744C>T (p.Phe1248=) rs200729621 0.00004
NM_006904.7(PRKDC):c.5464C>T (p.Arg1822Cys) rs377127342 0.00004
NM_006904.7(PRKDC):c.1971T>C (p.Ser657=) rs766026632 0.00003
NM_006904.7(PRKDC):c.5559C>T (p.Ser1853=) rs777811841 0.00003
NM_006904.7(PRKDC):c.5269A>G (p.Met1757Val) rs376292677 0.00002
NM_006904.7(PRKDC):c.11930C>T (p.Thr3977Met) rs200248112 0.00001
NM_006904.7(PRKDC):c.3157C>T (p.Pro1053Ser) rs771002751 0.00001
NM_006904.7(PRKDC):c.3911A>G (p.His1304Arg) rs1315944028 0.00001
NM_006904.7(PRKDC):c.7786C>T (p.Arg2596Cys) rs756717665 0.00001
NM_006904.7(PRKDC):c.10322C>T (p.Ala3441Val) rs757868901
NM_006904.7(PRKDC):c.1114-1G>A rs1554645438
NM_006904.7(PRKDC):c.11212A>G (p.Ile3738Val)
NM_006904.7(PRKDC):c.11713G>T (p.Ala3905Ser) rs762000221
NM_006904.7(PRKDC):c.11978C>T (p.Ser3993Leu) rs1554623574
NM_006904.7(PRKDC):c.12175A>G (p.Ile4059Val) rs2086617397
NM_006904.7(PRKDC):c.2755C>T (p.Leu919Phe) rs1431074490
NM_006904.7(PRKDC):c.2899C>T (p.Pro967Ser)
NM_006904.7(PRKDC):c.304C>T (p.Pro102Ser)
NM_006904.7(PRKDC):c.3256T>C (p.Tyr1086His) rs1030128713
NM_006904.7(PRKDC):c.509-4T>G rs200774352
NM_006904.7(PRKDC):c.5960G>A (p.Arg1987His) rs551812114
NM_006904.7(PRKDC):c.7114C>T (p.Pro2372Ser) rs748925420
NM_006904.7(PRKDC):c.9936_9937del (p.Ser3313fs) rs1589705455

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